RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: mesangial proliferative glomerulonephritis
Accession: DOID:4783
browse the term
Definition: Inflammation of the renal glomeruli characterized histologically by proliferation of MESANGIAL CELLS and increase in the MESANGIAL EXTRACELLULAR MATRIX.
Synonyms: exact_synonym: mesangioproliferative glomerulonephritis
xref: GARD:9580 ; NCI:C35445
For additional species annotation, visit the
Alliance of Genome Resources .
G
Fbn1
fibrillin 1
IEP
mRNA:increased expression:cortex of kidney
RGD
PMID:25482639
RGD:12910487
NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
G
Fgfr1
Fibroblast growth factor receptor 1
IEP
mRNA:increased expression:mesangial cell
RGD
PMID:10592054
RGD:10402100
NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
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Gadd45g
growth arrest and DNA-damage-inducible, gamma
IEP
mRNA,protein:increased expression:kidney
RGD
PMID:16736195
RGD:14700866
NCBI chr17:13,391,474...13,393,219
Ensembl chr17:13,391,467...13,393,243
G
Itga8
integrin subunit alpha 8
IEP
mRNA:increased expression:cortex of kidney
RGD
PMID:25482639
RGD:12910487
NCBI chr17:79,321,893...79,676,927
Ensembl chr17:79,321,900...79,676,499
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Nr4a1
nuclear receptor subfamily 4, group A, member 1
IEP
mRNA,protein:increased expression:kidney
RGD
PMID:16736195
RGD:14700866
NCBI chr 7:142,899,358...142,920,216
Ensembl chr 7:142,905,758...142,920,216
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Pdgfd
platelet derived growth factor D
treatment
IMP IEP
mRNA,protein:increased expression:glomerulus,serum:
RGD
PMID:17308324 , PMID:12937299
RGD:9854629 , RGD:9854637
NCBI chr 8:4,441,010...4,666,754
Ensembl chr 8:4,440,876...4,669,014
G
Rapgef1
Rap guanine nucleotide exchange factor 1
IEP
protein:increased expression:renal glomerulus
RGD
PMID:20725139
RGD:11534982
NCBI chr 3:8,189,594...8,307,077
Ensembl chr 3:8,192,575...8,304,976
G
Vwf
von Willebrand factor
IEP
protein:increased expression:glomerulus:
RGD
PMID:10450036
RGD:11079208
NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
G
Cfh
complement factor H
ISO
ClinVar Annotator: match by term: CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
ClinVar
PMID:8072530 PMID:11158219 PMID:11978762 PMID:12424708 PMID:12697737 PMID:15761120 PMID:15870199 PMID:16299065 PMID:16619239 PMID:17018561 PMID:17947292 PMID:18252712 PMID:18557729 PMID:19190809 PMID:19259132 PMID:19297022 PMID:21415311 PMID:21909106 PMID:22019782 PMID:22171659 PMID:22223606 PMID:22389686 PMID:22403278 PMID:22456601 PMID:23852337 PMID:24036949 PMID:24498017 PMID:25037630 PMID:25741868 PMID:25814826 PMID:25880396 PMID:26559391 PMID:28492532
NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
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Cx3cl1
C-X3-C motif chemokine ligand 1
IEP
RGD
PMID:12028445
RGD:9491783
NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
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Cx3cr1
C-X3-C motif chemokine receptor 1
IEP
RGD
PMID:12028445
RGD:9491783
NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
G
Cfh
complement factor H
ISO
DNA:SNPs,Haplotype::
RGD
PMID:17517971 , PMID:17517971
RGD:7364995 , RGD:7364995
NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
G
Fn1
fibronectin 1
ISO
ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2 ClinVar Annotator: match by OMIM:601894
OMIM ClinVar
PMID:1544672 PMID:7564073 PMID:7747733 PMID:12042895 PMID:18268355 PMID:25741868 PMID:28492532
NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078
G
Sox18
SRY-box transcription factor 18
ISO
ClinVar Annotator: match by term: Glomerulonephritis with sparse hair and telangiectases
ClinVar OMIM
PMID:2484451 PMID:12740761 PMID:24697860 PMID:25741868 PMID:29307792
NCBI chr 3:177,177,237...177,179,039
Ensembl chr 3:177,177,310...177,179,127
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Tcea2
transcription elongation factor A2
ISO
ClinVar Annotator: match by term: Glomerulonephritis with sparse hair and telangiectases
ClinVar
PMID:2484451 PMID:12740761 PMID:24697860 PMID:25741868 PMID:29307792
NCBI chr 3:177,187,686...177,195,898
Ensembl chr 3:177,188,044...177,195,894
G
Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1556257
NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
G
Angpt2
angiopoietin 2
IEP IDA
protein:increased expression:glomerulus (rat)
RGD
PMID:18272601 , PMID:16014048
RGD:2314193 , RGD:2314222
NCBI chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195
G
C1qa
complement C1q A chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8840296
NCBI chr 5:155,261,254...155,264,101
Ensembl chr 5:155,261,250...155,264,143
G
C3
complement C3
ISO
ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis
ClinVar
PMID:32581362
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
G
Ccl2
C-C motif chemokine ligand 2
treatment
IMP
RGD
PMID:10411686
RGD:8549648
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
G
Ccn2
cellular communication network factor 2
IEP
protein:increased expression:kidney, glomerulus (rat)
RGD
PMID:15172885
RGD:1601118
NCBI chr 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
G
Ccr6
C-C motif chemokine receptor 6
treatment
IEP
RGD
PMID:23192593
RGD:7483632
NCBI chr 1:53,063,380...53,087,519
Ensembl chr 1:53,065,025...53,087,474
G
Cdk2
cyclin dependent kinase 2
IMP
RGD
PMID:17893107
RGD:2293563
NCBI chr 7:3,124,953...3,132,533
Ensembl chr 7:3,124,954...3,132,457
G
Cdkn1b
cyclin-dependent kinase inhibitor 1B
IEP
protein:decreased expression:kidney
RGD
PMID:16787597
RGD:2293620
NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
G
Cfb
complement factor B
ISO
RGD
PMID:12091909 , PMID:2329415
RGD:734771 , RGD:7242760
NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066 Ensembl chr20:4,536,203...4,561,066
G
Cfh
complement factor H
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis, type II
CTD ClinVar
PMID:14978182 PMID:32581362
NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
G
Cfi
complement factor I
ISO
RGD
PMID:18202746
RGD:6906892
NCBI chr 2:235,264,149...235,305,779
Ensembl chr 2:235,264,219...235,305,781
G
Cxcr1
C-X-C motif chemokine receptor 1
IEP
RGD
PMID:23336303
RGD:7207859
NCBI chr 9:81,466,430...81,469,299
Ensembl chr 9:81,466,332...81,469,274
G
Edn1
endothelin 1
treatment
IEP IMP
mRNA, protein:increased expression:glomerulus (rat)
RGD
PMID:8569091 , PMID:11601021
RGD:4144848 , RGD:8662296
NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
G
Ep300
E1A binding protein p300
treatment
IMP
RGD
PMID:24344329
RGD:9588308
NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
G
F5
coagulation factor V
IMP
RGD
PMID:15172885
RGD:1601118
NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
G
Fn1
fibronectin 1
IEP
RGD
PMID:10082755
RGD:7206847
NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078
G
Il1b
interleukin 1 beta
IDA
RGD
PMID:21871881
RGD:7175308
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
G
Kcnt2
potassium sodium-activated channel subfamily T member 2
ISO
ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis
ClinVar
PMID:32581362
NCBI chr13:57,130,855...57,520,263
Ensembl chr13:57,131,395...57,521,836
G
Myoc
myocilin
IEP
protein:increased expression:renal glomerulus (rat)
RGD
PMID:15610237
RGD:7401266
NCBI chr13:80,517,531...80,527,928
Ensembl chr13:80,517,536...80,527,928
G
Pfn1
profilin 1
IDA
RGD
PMID:8651905
RGD:729497
NCBI chr10:57,273,003...57,275,708
Ensembl chr10:57,273,005...57,275,708
G
Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16175651
NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
G
Prf1
perforin 1
IEP
mRNA:increased expression:glomerulus
RGD
PMID:10886554
RGD:1599935
NCBI chr20:30,915,294...30,920,804
Ensembl chr20:30,915,213...30,921,382
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Sparc
secreted protein acidic and cysteine rich
IEP
mRNA:increased expression:glomerulus
RGD
PMID:8644857
RGD:2300070
NCBI chr10:40,742,390...40,764,232
Ensembl chr10:40,742,400...40,764,185
G
Tgfbr2
transforming growth factor, beta receptor 2
IDA
RGD
PMID:11703592
RGD:1601601
NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
G
Tlr1
toll-like receptor 1
ISO
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr14:45,062,662...45,065,014
Ensembl chr14:45,062,662...45,081,991
G
Tlr11
toll-like receptor 11
ISO
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr15:27,177,900...27,182,339
Ensembl chr15:27,177,900...27,182,339
G
Tlr2
toll-like receptor 2
ISO
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
G
Tlr4
toll-like receptor 4
ISO
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
G
Tlr5
toll-like receptor 5
ISO
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr13:101,364,784...101,385,764
Ensembl chr13:101,381,510...101,385,764
G
Tlr6
toll-like receptor 6
ISO
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr14:45,024,351...45,041,188
Ensembl chr14:45,024,351...45,046,446
G
Tlr7
toll-like receptor 7
ISO
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr X:28,486,836...28,513,004
Ensembl chr X:28,486,869...28,512,957
G
Tlr8
toll-like receptor 8
ISO
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr X:28,539,158...28,562,803
Ensembl chr X:28,539,158...28,562,803
G
Tlr9
toll-like receptor 9
ISO
mRNA:increased expression:renal glomerulus (mouse)
RGD
PMID:18256364
RGD:7246909
NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
G
Tslp
thymic stromal lymphopoietin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17686814
NCBI chr18:25,613,601...25,618,066
Ensembl chr18:25,613,831...25,617,361
G
Dgke
diacylglycerol kinase epsilon
ISO
ClinVar Annotator: match by term: Nephrotic syndrome, type 7 ClinVar Annotator: match by OMIM:615008
OMIM ClinVar
PMID:23274426 PMID:23542698 PMID:24747643 PMID:25349199 PMID:25741868 PMID:29127259 PMID:29590070
NCBI chr10:76,375,981...76,408,224
Ensembl chr10:76,386,471...76,407,989
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